Purebreds and Mutts A Difference of Heredity

Genetics is the science of heredity

These black Labrador puppies are purebred
their parents and grandparents were black Labs
with very similar genetic makeups
Purebreds
often suffer
from serious
genetic defects

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 The parents of these puppies were a mixture of
different breeds
Their behavior
and appearance
is more varied
as a result of
their diverse
genetic
inheritance

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

Experimental genetics began in an abbey garden

Modern genetics began with Gregor Mendels

quantitative experiments with pea plants

Stamen

Carpel
Figure 9.2A, B

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 Mendel crossed
White
1 Removed
stamens

pea plants that

from purple
flower

differed in certain
characteristics and Stamens

traced the traits

Carpel 2 Transferred
pollen from
stamens of white
from generation to
PARENTS Purple flower to carpel
(P)
of purple flower

generation 3 Pollinated carpel

matured into pod

This illustration
shows his
technique for 4 Planted
seeds

cross-fertilization OFF-
SPRING
from pod

(F1)

Figure 9.2C

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 Mendel studied FLOWER
COLOR Purple White

seven pea
characteristics
FLOWER
POSITION
Axial Terminal

He hypothesized SEED

that there are COLOR Yellow Green

alternative forms SEED

SHAPE Round Wrinkled

of genes POD
SHAPE
(although he did Inflated Constricted

not use that POD

COLOR Green Yellow

term), the units

that determine
heredity Figure 9.2D
STEM
LENGTH Tall Dwarf

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

Mendels principle of segregation describes the
inheritance of a single characteristic
From his P GENERATION
(true-breeding

experimental data, parents)

Purple flowers White flowers

Mendel deduced
that an organism
has two genes F1
All plants have
purple flowers
(alleles) for each generation

inherited Fertilization

characteristic among F1
plants
(F1 x F1)

One characteristic
comes from each
parent F2
generation
3/of plants 1/
4 4 of plants
Figure 9.3A have purple flowers have white flowers
Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings
 GENETIC MAKEUP (ALLELES)
A sperm or egg P PLANTS PP pp

carries only one

allele of each pair Gametes All P All p

The pairs of alleles

separate when F1 PLANTS
(hybrids) All Pp

gametes form
Gametes 1/ 1/
2 P 2 p

This process
describes Mendels
law of segregation
P P
Eggs Sperm
PP
F2 PLANTS p p

Alleles can be Phenotypic ratio Pp Pp

dominant or 3 purple : 1 white

pp
recessive Genotypic ratio
1 PP : 2 Pp : 1 pp
Figure 9.3B

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

Homologous chromosomes bear the two alleles for
each characteristic

Alternative forms of a gene (alleles) reside at

the same locus on homologous chromosomes

GENE LOCI
DOMINANT
allele
P a B

P a b
RECESSIVE
allele
GENOTYPE: PP aa Bb

HOMOZYGOUS HOMOZYGOUS HETEROZYGOUS

for the for the
dominant allele recessive allele Figure 9.4

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

Mendels principles reflect the rules of probability

Inheritance follows F1 GENOTYPES

the rules of probability Bb female

Formation of eggs
Bb male

Formation of sperm

The rule of
multiplication and
1/
2
B B
1/

the rule of addition

2

B B 1/

can be used to
2
b b
1/ 1/

determine the
2 4

b B B b

probability of certain 1/
4
1/
4

events occurring b b
F2 GENOTYPES
1/
4

Figure 9.7

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

Connection: Genetic traits in humans can be
tracked through family pedigrees

The inheritance of many

human traits follows
Mendels principles and
the rules of probability

Figure 9.8A
Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings
9.13 Many genes have more than two alleles in the
population
In a population, multiple alleles often exist for a
characteristic
The three alleles for ABO blood type in humans
is an example

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 The alleles for A and B blood types are
codominant, and both are expressed in the
phenotype
Blood Antibodies Reaction When Blood from Groups Below Is Mixed with
Group Present in Antibodies from Groups at Left
(Phenotype) Genotypes Blood
O A B AB

Anti-A
O ii
Anti-B

IA IA
A or Anti-B
IA i

IB IB
B or Anti-A
IB i

AB IA IB

Figure 9.13

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 ABO blood types

Figure 9.13x

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

A single gene may affect many phenotypic
characteristics

A single gene may affect phenotype in many

ways
This is called pleiotropy
The allele for sickle-cell disease is an example

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 Normal and sickle red blood cells

Figure 9.14x1

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 Individual homozygous
for sickle-cell allele

Sickle-cell (abnormal) hemoglobin

Abnormal hemoglobin crystallizes,

causing red blood cells to become sickle-shaped

Sickle cells

Clumping of cells
Breakdown of red Accumulation of
and clogging of
blood cells sickled cells in spleen
small blood vessels

Physical Heart Pain and Brain Damage to Spleen

Anemia
weakness failure fever damage other organs damage

Impaired Pneumonia Kidney

mental Paralysis and other Rheumatism
failure
function infections

Figure 9.14

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

Connection: Genetic testing can detect disease-
causing alleles

Genetic testing can be of

value to those at risk of
developing a genetic disorder
or of passing it on to offspring
Figure 9.15B

Dr. David Satcher, former U.S.

surgeon general, pioneered
screening for sickle-cell disease

Figure 9.15A

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

A single characteristic may be influenced by many
genes

This situation creates a continuum of

phenotypes
Example: skin color

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 P GENERATION

aabbcc AABBCC
(very light) (very dark)

F1 GENERATION

AaBbCc AaBbCc

Fraction of population
Eggs Sperm

Skin pigmentation
F2 GENERATION

Figure 9.16

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

THE CHROMOSOMAL BASIS OF
INHERITANCE
Chromosome behavior accounts for Mendels
principles

Genes are located on chromosomes

Their behavior during meiosis accounts for
inheritance patterns

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 The chromosomal basis of Mendels principles

Figure 9.17

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

9.18 Genes on the same chromosome tend to be
inherited together

Certain genes are linked

They tend to be inherited together because they
reside close together on the same chromosome

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 Figure 9.18

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

Crossing over produces new combinations of alleles

This produces gametes with recombinant

chromosomes
The fruit fly Drosophila melanogaster was used
in the first experiments to demonstrate the
effects of crossing over

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 A B a b

A B

a b A b a B
Tetrad Crossing over

Gametes

Figure 9.19A, B

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 Figure 9.19C

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

Geneticists use crossover data to map genes

Crossing over is more likely to occur between

genes that are farther apart
Recombination frequencies can be used to map
the relative positions of genes on chromosomes

Chromosome
g c l

17%

9% 9.5%
Figure 9.20B

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 Alfred H. Sturtevant, seen here at a party with
T. H. Morgan and his students, used
recombination data from Morgans fruit fly
crosses to map genes

Figure 9.20A

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 A partial genetic map of a fruit fly chromosome
Mutant phenotypes

Short Black Cinnabar Vestigial Brown

aristae body eyes wings eyes
(g) (c) (l)

Long aristae Gray Red Normal Red

(appendages body eyes wings eyes
on head) (G) (C) (L)

Wild-type phenotypes Figure 9.20C

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

SEX CHROMOSOMES AND SEX-LINKED
GENES
Chromosomes determine sex in many species

A human male has one X chromosome and one

Y chromosome
A human female has two X chromosomes
Whether a sperm cell has an X or Y
chromosome determines the sex of the
offspring

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 (male) (female)

Parents
diploid
cells

X Y
Male

Sperm Egg

Offspring
(diploid)

Figure 9.21A

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 Other systems of sex determination exist in
other animals and plants

The X-O system

The Z-W system

Chromosome number
Figure 9.21B-D

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

Sex-linked genes exhibit a unique pattern of
inheritance

All genes on the sex chromosomes are said to be

sex-linked
In many organisms, the X chromosome carries
many genes unrelated to sex
Fruit fly eye
color is a
sex-linked
characteristic

Figure 9.22A

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 Their inheritance pattern reflects the fact that
males have one X chromosome and females
have two
These figures illustrate inheritance patterns for
white eye color (r) in the fruit fly, an X-linked
recessive trait
Female Male Female Male Female Male

XRXR Xr Y XRXr XRY XRXr XrY

XR Xr XR XR XR Xr
XRXr Y Xr XRXR Y Xr XRXr Y
XRY XrXR XRY Xr Xr XRY
XrY XrY

R = red-eye allele
r = white-eye allele Figure 9.22B-D

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

9.23 Connection: Sex-linked disorders affect
mostly males

Most sex-linked human

disorders are due to
recessive alleles
Examples: hemophilia,
red-green color blindness
These are mostly seen in males Figure 9.23A

A male receives a single X-linked allele from his

mother, and will have the disorder, while a
female has to receive the allele from both
parents to be affected
Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings
 A high incidence of hemophilia has plagued the
royal families of Europe

Queen Albert
Victoria

Alice Louis

Alexandra Czar
Nicholas II
of Russia

Alexis
Figure 9.23B

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings